ClinVar Miner

List of variants reported as benign for Mitochondrial complex I deficiency by Illumina Clinical Services Laboratory,Illumina

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Total variants: 14
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HGVS dbSNP
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_014165.4(NDUFAF4):c.*382T>A rs1971475
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_017547.4(FOXRED1):c.-2T>C rs1786702
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_025152.3(NUBPL):c.*1685A>G rs1129622
NM_025152.3(NUBPL):c.*1694G>A rs1129623
NM_025152.3(NUBPL):c.*1874A>G rs10348
NM_025152.3(NUBPL):c.*995T>C rs10136892
NM_174889.4(NDUFAF2):c.-97A>G rs158922
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921

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